Focal dermal hypoplasia: inheritance from father to daughter
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DOI: 10.1111/ced.13047
Abstract: A. Durack, N. P. Burrows, R. C. D. Staughton, K. Shalders, J. E. Mellerio and S. T. Holden Departments of Dermatology and Clinical Genetics, Addenbrooke’s Hospital, Cambridge University Hospital NHS Foundation Trust, Hills Road, Cambridge,… read more here.
Keywords: dermatology; nhs foundation; focal dermal; dermal hypoplasia ... See more keywords
Histopathologic findings of drug‐induced eruptive porokeratosis under nivolumab therapy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cutaneous Pathology"
DOI: 10.1111/cup.14379
Abstract: 1. Felix-Ilemhenbhio F, Pickering GAE, Kiss-Toth E, Wilkinson JM. Pathophysiology and emerging molecular therapeutic targets in heterotopic ossification. Int J Mol Sci. 2022;23:6983. doi:10.3390/ ijms23136983 2. Bastepe M. GNAS mutations and heterotopic ossification. Bone. 2018;109:80-85.… read more here.
Keywords: doi; doi 1111; histopathologic findings; dermal hypoplasia ... See more keywords
Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK
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DOI: 10.1136/bcr-2019-231809
Abstract: Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive… read more here.
Keywords: focal dermal; goltz syndrome; dermal hypoplasia; case ... See more keywords
A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report
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DOI: 10.1159/000487580
Abstract: Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal… read more here.
Keywords: novel porcn; porcn frameshift; focal dermal; dermal hypoplasia ... See more keywords
Late-onset focal dermal elastosis: Report of a case and review of the literature
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DOI: 10.4081/dr.2022.9337
Abstract: Late-onset focal dermal elastosis is a rare cutaneous condition classified as an increased dermal elastic tissue disorder. It is distinguished clinically by multiple papules with a preference for the neck and other flexures, as well… read more here.
Keywords: onset focal; dermal elastosis; late onset; focal dermal ... See more keywords
Almost Unilateral Focal Dermal Hypoplasia
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DOI: 10.5021/ad.2017.29.1.91
Abstract: Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English… read more here.
Keywords: focal dermal; unilateral focal; dermal hypoplasia; almost unilateral ... See more keywords